MBOAT7 is a protein anchored to endomembranes by several transmembrane domains. It
has a catalytic dyad involved in remodelling of phosphatidylinositol with polyunsaturated …

Advanced liver diseases account for approximately 2 million deaths annually worldwide.
Roughly, half of liver disease-associated deaths arise from complications of cirrhosis and …

Human membrane bound O-acyltransferase domain-containing 7 (MBOAT7), also known as
lysophosphatidylinositol acyltransferase 1 (LPIAT1), is an enzyme involved in the acyl-chain …

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is
associated with intellectual disability, early onset seizures, and autism spectrum disorders …

The membrane bound O-acyltransferase domain-containing 7 (MBOAT7) gene codes for an
enzyme involved in regulating arachidonic acid incorporation in lysophosphatidylinositol …

Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central
nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of …

Epilepsy and mental retardation are known to be associated with pathogenic mutations in a
broad range of genes that are expressed in the brain and have a role in neurodevelopment …

Simple Summary This review discusses the enzymatic processes governing the initial
stages of the synthesis of glycerophospholipids (phosphatidylcholine …

Background Population diversity is important and rare disease isolates can frequently reveal
novel homozygous or biallelic mutations that lead to expanded clinical heterogeneity, with …

Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18
families, showing nonspecific clinical features (intellectual disability [ID], seizures …